chr4:99428512:C>G Detail (hg38) (ADH7)

Information

Genome

Assembly Position
hg19 chr4:100,349,669-100,349,669 View the variant detail on this assembly version.
hg38 chr4:99,428,512-99,428,512

HGVS

Type Transcript Protein
RefSeq NM_000673.4:c.275G>C NP_000664.2:p.Gly92Ala
NM_001166504.1:c.299G>C NP_001159976.1:p.Gly100Ala
Ensemble ENST00000209665.8:c.275G>C ENST00000209665.8:p.Gly92Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600086 OMIM
HGNC 256 HGNC
Ensembl ENSG00000196344 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18019757 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Squamous cell carcinoma of the head and neck The authors conducted a hospital-based study of 1110 patients with squamous cell... BeFree 20336794 Detail
0.013 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.133 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.004 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
0.001 Squamous cell carcinoma of the head and neck The authors conducted a hospital-based study of 1110 patients with squamous cell... BeFree 20336794 Detail
0.007 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.033 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
<0.001 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
0.020 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.001 Squamous cell carcinoma of the head and neck The authors conducted a hospital-based study of 1110 patients with squamous cell... BeFree 20336794 Detail
<0.001 colorectal cancer However, the relationship between alcohol and CRC risk might be modulated by the... BeFree 23149980 Detail
<0.001 colorectal carcinoma However, the relationship between alcohol and CRC risk might be modulated by the... BeFree 23149980 Detail
<0.001 Squamous cell carcinoma of the head and neck The ADH7 A92G GG and combined CG + GG genotypes were associated with a decreased... BeFree 20336794 Detail
<0.001 Squamous cell carcinoma of the head and neck A single nucleotide polymorphism in the alcohol dehydrogenase 7 gene (alanine to... BeFree 20336794 Detail
Annotation

Annotations

DescrptionSourceLinks
The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the he... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the he... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the he... DisGeNET Detail
However, the relationship between alcohol and CRC risk might be modulated by the rs1573496 (ADH7) po... DisGeNET Detail
However, the relationship between alcohol and CRC risk might be modulated by the rs1573496 (ADH7) po... DisGeNET Detail
The ADH7 A92G GG and combined CG + GG genotypes were associated with a decreased risk of SCCHN (GG: ... DisGeNET Detail
A single nucleotide polymorphism in the alcohol dehydrogenase 7 gene (alanine to glycine substitutio... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr4:99,428,512-99,428,512
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
164.99
Standard deviation of sample read depth (HGVD)
79.09
Number of reference allele (HGVD)
2417
Number of alternative allele (HGVD)
3
Allele Frequency (HGVD)
0.0012396694214876034
Gene Symbol (HGVD)
ADH7
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1573496
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.155802126675913E-4
Chromosome Counts in All Race (ExAC)
121044
Allele Counts in All Race (ExAC)
10170
Heterozygous Counts in All Race (ExAC)
8972
Homozygous Counts in All Race (ExAC)
597
Allele Frequency in All Race (ExAC)
0.08401903440071379
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